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Nicklaus Children’s Hospital, in collaboration with Rady Children’s Institute for Genomic Medicine and Sanford Health, has launched two genomic medicine research protocols to more effectively diagnose and treat children with unexplained illnesses.

Nicklaus Children’s Hospital, in collaboration with Rady Children’s Institute for Genomic Medicine and Sanford Health, has launched two genomic medicine research protocols to more effectively diagnose and treat children with unexplained illnesses.

The three participating entities have a shared commitment to clinical innovation and research collaboration that enhance patient care, decrease healthcare costs and further the scientific understanding of rare genetic diseases in children. Nicklaus Children’s Hospital and San Diego-based Rady Children’s Institute, are part of the Sanford Children’s Genomic Medicine Consortium, which is committed to advancing children’s medicine through integration of genomics into pediatric care. Sanford Health is an integrated health system headquartered in the Dakotas.

The goal of genomic medicine is to develop a precision care plan for each child based on determining an underlying genetic diagnosis. The collaboration between Nicklaus Children’s and Rady Children’s Institute will offer whole genome sequencing (WGS) to children in two settings:

Acutely ill patients with undetermined illnesses in Nicklaus Children’s three intensive care units (neonatal, pediatric and cardiac). These children will be eligible for rapid whole genome sequencing (rWGS) testing to provide the fastest possible results.

Children with chronic undiagnosed medical conditions. These children, often described as being on a “diagnostic odyssey,” have typically visited multiple specialists in search of a definitive diagnosis to support treatment.

Through the collaboration, Nicklaus Children’s will send patient blood samples to Rady Children’s Institute for Genomic Medicine in San Diego. Whole genome sequencing, bioinformatics analysis, and initial clinical interpretation will occur in San Diego and the experts at Nicklaus Children’s will use the results to care for children in Miami.

For acutely ill newborns and children, rWGS, a relatively new test, can provide much faster diagnoses than traditional genome testing, mapping a whole genome in less than a week. A confirmed diagnosis can be vital in the first days of life to direct appropriate, and sometimes life-saving, clinical care.

For diagnostic odyssey patients, WGS is used to provide long-sought answers for families in search of a diagnosis for a chronically ill child. Often these children have visited multiple specialists and undergone myriad tests and procedures in their young lives. Whole genome sequencing can unlock answers for these families.

Both efforts are part of the Personalized Medicine Initiative at Nicklaus Children’s Hospital led by Jennifer McCafferty, PhD, director of Nicklaus Children’s Research Institute and Personalized Medicine Initiative.

“We are thrilled to be at the leading edge of genomic medicine in pediatrics. This program is a great example of how Nicklaus Children’s partners on discovery and delivers on clinical impact for children and families in South Florida,” said Dr. McCafferty. “Genomic medicine offers hope to parents of sick children who have not yet received a diagnosis.”

Both the diagnostic odyssey and intensive care unit rWGS efforts are in the research phase and not yet offered as a standard of care. Physicians at Nicklaus Children’s Hospital are able to refer potential candidates to the research team for possible enrollment in these initiatives.

Since July 2016, Rady Children’s Institute for Genomic Medicine has performed rapid whole genome sequencing for more than 431 acutely ill children enrolled in its research studies. As of April 9, approximately one-third of patients sequenced have received a genomic diagnosis with 63 percent of those benefitting from an immediate change in clinical care.

“The information we receive from whole genome sequencing is helping medical teams make treatment decisions, providing hope to these children and families,” said Stephen Kingsmore, MD, DSc, president and CEO of Rady Children’s Institute for Genomic Medicine. “This is the beginning of our long-term vision to save babies with rare, life-threatening diseases by making genomic testing available to NICUs, PICUs and CICUs nationwide.”

Membership in the Sanford Children’s Genomic Consortium, which was inspired by the vision of philanthropist Denny Sanford, also includes Sanford Children’s, Children’s Hospital Los Angeles, Children’s Hospital Colorado, Banner Children’s at Diamond Children’s Medical Center in Tucson and Children’s Minnesota.